摘要
目的:探讨RASSF1基因第三外显子G133T和第六外显子A315G单核苷酸多态性(SNP)与陕西地区汉族人群食管鳞状细胞癌(ESCC)易感性的关系。方法:采用基于人群的病例对照研究,聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测120例ESCC和122例健康对照个体RASSF1基因多态位点的基因型频率分布,比较不同基因型与ESCC发生风险的关系。结果:RASSF1基因G133T多态的T等位基因频率和A315G多态的G等基因频率在ESCC患者组分别为17.5%和23.8%,显著高于健康对照组的6.1%和11.9%。根据个体吸烟状况进行分层分析发现,携带G/T基因型或T等位基因(G/T+T/T基因型)和携带A/G基因型或G等位基因(A/G+G/G基因型)可显著增加吸烟个体ESCC的发病风险,经性别、年龄、GIC家族史校正后的OR值分别为11.7和5.02(95%CI=3.95-34.9和2.09-12.06)。GIC家族史分层分析发现,携带G/T基因型或T等位基因(G/T+T/T基因型)和A/G基因型可显著增加GIC家族史阳性个体和GIC家族史阴性个体ESCC的发病风险,经性别、年龄、吸烟状况校正后的OR值为5.08和3.51(95%CI=1.85-13.92和1.69-7.21)。结论:携带RASSF1基因G133T多态的T等位基因(G/T+T/T基因型)可能显著增加陕西地区人群ESCC的发病风险。携带RASSF1基因A315G多态的G等位基因(A/G+G/G基因型)可能显著增加陕西地区人群ESCC的发病风险。
Objective：To investigate the correlation between single nucleotide polymorphisms（SNPs）,G133T and A315G of RASSF1 gene and susceptibilities of ESCC in shaanxi Han population.Methods： This population-based case-control study included 120 patients with ESCC and 122 healthy controls.Polymorphisms of RASSF1 gene was analyzed by PCR-restriction fragment length polymorphism analysis（RFLP）.Results： Frequencies of the RASSF1 G133T T allele and A315G G allele in ESCC patients were 17.5% and 23.8%,which were significantly higher than that in healthy controls（6.1% and 11.9%）.When stratified by smoking status,individuals with G/T genotype T allele（G/T＋T/T genotype） and A/G genotype or G allele（A/G＋G/G genotype） in smoker group had higher risk in developing ESCC（age,gender,family history of GIC adjusted OR=11.7 and 5.02,95% CI=3.95-34.9 and 2.09-12.06）.When stratified by family history of GIC,individuals with G/T genotype T allele（G/T＋T/T genotype） and A/G genotype in the group with family history of GIC and in the group without family history of GIC had higher risk in developing ESCC（age,gender,smoking status adjusted OR=5.08 and 3.51,95% CI= 1.85-13.92 and 1.69-7.21）.Conclusion： The T allele（G/T＋T/T genotype） of RASSF1 G133T SNP significantly increased the risk developing ESCC.The A/G genotype G allele（A/G＋G/G genotype） of RASSF1 A315G SNP significantly increased the risk to developing ESCC.
出处
《现代肿瘤医学》
CAS
2010年第10期1946-1951,共6页
Journal of Modern Oncology
基金
陕西省攻关项目(编号:2003K10-G38)
关键词
食管鳞状细胞癌
RASSF1基因
单核苷酸多态性
肿瘤易感性
esophageal squamous cell carcinoma（ESCC）
RAS association domain family 1（RASSF1）gene
single nucleotide polymorphism（SNP）
tumor susceptibility
